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大学・研究所にある論文を検索できる 「Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。
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Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations

Kuramochi, Yuji Awaya, Tomonari Matsuo-Takasaki, Mami Takami, Miho An, Yuri Li, Jingyue Hemmi, Yasuko Wakabayashi, Tamami Arai, Yutaka Inoue, Jun Noguchi, Michiya Nakamura, Yukio Asaka, Isao Akimoto, Kazunori Saito, Megumu K. Hayashi, Yohei 京都大学 DOI:10.1016/j.scr.2021.102337

2021.05

概要

Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated from skin fibroblasts using retroviral vectors. The generated hiPSC lines showed self-renewal and pluripotency, and carried either a missense or a nonsense mutation in ABCD1 gene. Since the molecular pathogenesis caused by ABCD1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for X-ALD.

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参考文献

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